S50* (p.Ser50Ter) variant of HBD (Hemoglobin subunit delta)
S50* (p.Ser50Ter) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S50* (p.Ser50Ter) variant details
- p.Ser50Ter
- rs1187986074
- gnomAD 11-5233039-G-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 22.30
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available